Associated Papers
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
40238651 (PubMed )
Supplement: elife-95347-fig2-figsupp3-data1.xlsx › Figure_2-figure_supplement_3A
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
38234851 (PubMed )
Supplement: media-11.pdf
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf
Dominant role of CDKN2B/p15INK4B of 9p21.3 tumor suppressor hub in inhibition of cell-cycle and glycolysis.
Xia Y et al.
Nature Communications, 2021
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
De Simone P et al.
International Journal of Molecular Sciences, 2020
Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.
Olbryt M et al.
Targeted Oncology, 2020
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Zhao B et al.
Plos Genetics, 2016
Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
Smalley KS et al.
Molecular Cancer Therapeutics, 2008
eMelanoBase: an online locus-specific variant database for familial melanoma.
Fung DC et al.
Human Mutation, 2003
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